Research

    1. Human Genetic Disorders (ICMR Project) (Complete) [worked as a research officer]

    a. Anthropometric measurements of complex area of development, which are often used in diagnosis of human genetic disorders.

    b. Double blind randomized trail of periconceptional vitamin supplementation for prevention of Neural Tube Defects

    2. Radiological and Anthropometric study of Handigodu disease: A new variety of spondyloepimetaphyseal dysplasia (ICMR project) complete. [worked for data analysis]

    3. Feasibility of introducing genetic screening in National Family Welfare Programme (ICMR Project). (Complete) [worked as a research officer]

    4. Control of Thalassemia by Antenatal screening (ICMR Project). Complete [worked as a research officer]

    5. Molecular Analysis of Premutation, Mutation and Mosaicism in Fragile X Mental Retardation Families (Department of Science & Technology, Project, Principle Iinvestigator - Dr. S.R. Phadke). Rs. 5,75,000.00/- from 5.9.1998(Completed)

    6. Study of connexin 26 mutations in nonsyndromic deafness in Indian population. (Intramural project: Principle Iinvestigator. Dr. S.R. Phadke (Rs. 1,25,000/-) from 15.5.2001 (Completed)

    7. Role of Biotechnology awareness program in prevention of genetic disorders among rural women. Phase I trial (Completed). Phase-II trial. Department of Biotechnology (Completed)

    8. Point mutation/microdeletions and SMN (T/C) ratio in spinal muscular atrophy: Phenotype correlation and carrier analysis. (Intramural project) (Co- investigator) (completed)

    9. Genetic Studies In Prader Willi & Angelman Syndrome. Sanctioned intramural project, 2005, ( Co- Investigator) (Completed)

    10. Creation of Genetic disease registry, DNA banking and EBV transformed cell lines from informative families of rare genetic disorders. ICMR, (Principle investigator) Rs 76 lacs. Started from July 2007 – for 3 years (Completed).

    11. ICMR training course in Medical Genetics and Genetic counseling. Indian Council of Medical Research – Rs 3.45 lac (Completed)

    12. ‘Warfarin Dosing in Relation to CYP2C9 and VKORC Polymorphism in Indian Population’ Intramural [Principle Iinvestigator], Rs 2.5 lac, Sanctioned on 4-5-10, period for 2 years. (Completed)

    13. ‘To create a newborn screening program for preventable causes of mental retardation, and create awareness about it among doctors and women of rural Uttar Pradesh.’ A project by Department of Biotechnology. Sanctioned in 17- 05-2010 for Rs 82.85 lakh for 3 years & 6 months [Principle Iinvestigator] (Completed)

    14. Mutation analysis of COL1A1 and COL1A2 genes in Indian patients with osteogenesis imperfecta. Indian Council of Medical Research, sanctioned on 29-3-11, Rs 9,30,888/- (Completed) [Principle Iinvestigator]

    15. Centre for Molecular Medicine: Indian Council of Medical Research. Rs 499 lac, for 5 years. Sanctioned on 21-3-12. (Completed) [Principle Iinvestigator]

    16. Evaluation of utility of cytogenetic microarray in detection of etiology of Prenatally detected malformation Rs 3 lac. Intramural. 1st Nov 2012 to 31st oct 2014 (Completed) [Principle Iinvestigator]

    17. Multicentric Collaborative Study of the Clinical, Biochemical and Molecular Characterization of Lysosomal Storage Disorders in India. Principle Iinvestigator – Shubha Phadke. Indian Council of Medical Research (Rs 31.3 lac for 3 years- Sanctioned on 10 th Dec 2014 - COMPLETE)

    18. Genomic studies into limb malformations and related syndromes. Department of Biotechnology. Sanctioned on 03/03/2015 for 3 years. Rs 97,97,160. Principle Iinvestigator – Shubha Phadke. (Completed)

    19. The Indian Movement Disorder Registry and Biobank: Clinical and Genetic Evaluation of Movement Disorders in Indian Patients” Sanctioned by Department of Biotechnology for 3 years in Oct 2018 (Principle Iinvestigator – Shubha Phadke) (Rs. 4755520-00)

    20. Training of in-service Clinicians from Government Hospitals and Outreach Program for Aspirational Districts",funded by Department of Biotechnology – 3 years from 9th May 2019 (Rs 12364000.00) [Principle Iinvestigator]

    21. To study sequence variations in genes involved in chromosome / chromatid separation including cohesin – condensing complex, kinetocore complex and centromeric proteins in mothers of individuals with trisomy 21 to find out the genetic factors predisposing non- disjunction – Intramural project [Principle Iinvestigator ]- Approved 2018 – Rs 5 lac

    22. Study of genotypes and phenotypes of autosomal recessive osteogenesis imperfecta and search for new genes in patients osteogenesisimperfecta with no mutation in known genes – Sanctioned by Indian Council of Medical Research, sanctioned on 27th August 2019, Rs 21,57,100 for one year [Principle Iinvestigator]

    Research projects in which Principal Investigator

    Title Funding Agency Duration and Date of start

    Spectrum of PTPN11 mutation in Indian subjects with Noonan syndrome Intramural 2 years (15.2. 2014) Completed March 2016

    Study of genetic causes of childhood overgrowth and search for new genes ICMR Under process (Concept note accepted)

    Monogenic causes of Paediatric Kidney diseases: A multicentre collaborative study from North, East and North-East India DBT Under process

    To evaluate the role of CAG repeat polymorphism of the androgen receptor in young females of UP origin [age 18-25 years] suffering from Polycystic Ovary Syndrome. Extramural (UPCST) Under review

    Research projects in which co-investigator

    Title Funding Agency Duration and Date of start

    Plasma exosomal micro RNA and proteome profiling in autism spectrum disorder children’s: probing for biomarkers SERB August 2018 (3 years)

    The Indian Movement disorder and Biobank DBT

    Genomic studies into defects of human limb development DBT 3 years (3.3.2015)

    Immunocytochemical Novel Rabbit Monoclonal antibody HER2/neu expression and gene amplication with FISH on cell blocks of breast carcinoma Intramural 2 years (15.2 2014) Completed March 2016

    Functional Validation of Novel Sequence Variants in Monogenic Disorders to prove their pathogenicity DST 3 years (June 2016)

    Utility of single nucleotide polymorphism genotyping array in identification of genetic etiology in patients with autosomal recessive disorder with consanguinity Intramural 2 years (15.2 2014)

    Role of WNT pathway signaling module RNF43, ZNFR3 in colorectal cancer Intramural 2 years (2017)

    Genetic and immunological characteristics and skeletal muscle dysfunction in patients with hypoparathyroidism Intramural October, 2018

    Understanding pathogenesis of Takayasu arteritis - transcriptomics applied to peripheral blood mononuclear cells (PBMC) and involved vessels, and the role of various T-cell subsets Extramural (ICMR) 3 years (April 2019)

    Genetic characterization of idiopathic ICMR Under consideration

    hypoparathyroidism using a whole exome sequencing approach

    Pathophysiology of clinical outcomes and FGF23 production in patients with phosphaturic mesenchymal tumours SERB Under consideration

    Genotype phenotype correlation of neuroendocrine tumours Intramural Jan 2019

    Research Projects as Principal Investigator during the year under review.

    Research Projects as PI

    S. N Title of project Funding agency

    1. To study the phenotypic spectrum of a cohort of patients with Parry Romberg syndrome and to identify the copy – number variations by cytogenetic microarray Funding agency SGPGI 2. Use Of Next Generation Sequencing Techniques In Identification Of Causative Etiology In Fetuses With Abnormal Ultrasound Findings And Identification Of Novel Genes In Lethal Disorders Funding agency ICMR

    1. Clinical and genotypic profile of arthrogryposis multiplex congenita Duration (Ongoing / complete 2 years (ongoing)

    1. Investigating the genetic contributors to spinocerebellar ataxia in Indian population SGPGIMS, Intramural Grant (2019-2021) Role: PI

    2. Identification of genetic variants and their functional evaluation in the pathogenesis of inherited cardiomyopathies ICMR, Govt. of India (2019-2022) Role: Co-PI

    3. Probing the dynamic balance of histone H2AUb1 regulatory axis in hypertrophic cardiomyopathy and early heart development IYBA, DBT, Govt. of India (2019-2022) Role: PI

    4. Functional characterization of rare founder alleles causing neurodevelopmental disorders for biomarker identification and community genetics surveillance. Ramalingaswami Fellow, DBT, Govt. of India (2020-2025) Role: PI

    5. Whole-exome sequencing based genetic testing and functional characterization of rare pathogenic alleles causing neurodevelopmental disorders for biomarker identification. ICMR, Govt. of India (2020-2023) Role: PI